| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 51752 |
Name | ERAP1 |
Synonymous | A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP;endoplasmic reticulum aminopeptidase 1;ERAP1;endoplasmic reticulum aminopeptidase 1 |
Definition | adipocyte-derived leucine aminopeptidase|aminopeptidase PILS|aminopeptidase regulator of TNFR1 shedding|endoplasmic reticulum aminopeptidase associated with antigen processing|puromycin-insensitive leucyl-specific aminopeptidase|type 1 tumor necrosis fact |
Position | 5q15 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ERAP1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ERAP1_E19_UTR_3; chr5; 96111591 |
SUB; UTR_3; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.433T>C; p.Y145H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1958C>A; p.S653Y; |
endometrium | carcinoma; serous_carcinoma |
c.1617G>C; p.G539G; |
stomach | carcinoma; adenocarcinoma |
c.236C>T; p.T79I; |
stomach | carcinoma; adenocarcinoma |
c.525-10T>G; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.432G>A; p.P144P; |
liver | carcinoma |
c.2166C>T; p.V722V; |
liver | carcinoma |
c.432G>A; p.P144P; |
liver | carcinoma |
c.1808G>T; p.G603V; |
lung | carcinoma; adenocarcinoma |
c.1424_1425insA; p.N475fs*7; |
lung | carcinoma; adenocarcinoma |
c.1560G>A; p.M520I; |
pancreas | carcinoma; ductal_carcinoma |
c.2463C>A; p.S821R; |
pancreas | NS |
c.1635G>T; p.K545N; |
liver | carcinoma |
c.2079_2082delTGAA; p.N693fs*14; |
liver | carcinoma |
c.525-5T>G; p.?; |
liver | carcinoma |
c.1498A>G; p.R500G; |
liver | carcinoma |
c.2488C>T; p.Q830*; |
lung | carcinoma; small_cell_carcinoma |
c.1939G>A; p.V647I; 5:96147252-96147252 |
ovary | carcinoma; serous_carcinoma |
c.1459C>T; p.P487S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1467T>A; p.D489E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1625T>C; p.V542A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.305T>C; p.I102T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1940T>C; p.V647A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2406A>T; p.E802D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.517G>A; p.E173K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1867C>A; p.L623I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1685T>G; p.L562R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.579C>A; p.C193*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2257A>C; p.K753Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2067_2068delAA; p.D691fs*3; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.524G>A; p.R175K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.985G>T; p.E329*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1836C>G; p.Y612*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2698G>T; p.E900*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2299G>A; p.V767M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.240G>A; p.T80T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2836G>A; p.A946T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2772G>T; p.K924N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1063C>G; p.L355V; |
breast | carcinoma |
c.60G>A; p.L20L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2698G>T; p.E900*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.777G>T; p.K259N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.25T>G; p.S9A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1861_1864delACTG; p.T621fs*3; |
endometrium | carcinoma; endometrioid_carcinoma |
c.380delG; p.R127fs*48; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.845C>T; p.A282V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.399G>A; p.L133L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1941C>G; p.V647V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1147G>A; p.E383K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1609G>A; p.V537M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.240G>A; p.T80T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2772G>A; p.K924K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.169T>C; p.Y57H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1939G>T; p.V647F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1693G>A; p.V565I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.574C>T; p.P192S; |
skin | malignant_melanoma |
c.184C>T; p.H62Y; |
skin; mucosal | malignant_melanoma |
c.1390T>C; p.Y464H; |
stomach | adenocarcinoma |
c.1319A>C; p.K440T; |
stomach | adenocarcinoma |